Chapter 9 Caveolin-3, Caveolae, and Hereditary Muscle Diseases

Abstract

Publisher Summary This chapter presents a review of caveolin-3, caveolae, and hereditary muscle diseases. Caveolin-3 (CAV3) is the muscle-specific protein product of the caveolin gene family with a relative molecular weight of ∼22kDa that is expressed in skeletal, cardiac, and smooth muscle cells. Caveolae are small plasma membrane invaginations that participate in membrane tracking, transport, and signal transduction. The expression of CAV3 is induced during the differentiation of skeletal myoblasts. CAV3 is localized in the plasma membrane, where it is associated with the dystrophin–glycoprotein complex. It has been recognized that mutations in the CAV3 gene (CAV3) give rise to very different phenotypes. Four clinical subgroups with various degrees of skeletal muscle involvement is identified. Patients at the severe end of the clinical spectrum have symptoms of a progressive limb-girdle muscular dystrophy (LGMD). Patients with a milder form of CAV3 deficiency either present with a distal myopathy or manifest only an isolated elevation of the muscle-specific creatine kinase enzyme (CK) activity in blood (hyperCKemia) without further neuromuscular symptoms. The chapter also explains caveolin-3 in muscular dystrophies.